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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Bridge J, Sanger W G, Mosher G, Buehler B, Nelson R, Welsh M, Newland J, Kafka M: Partial deletion of distal 17q. AJMG 21:225-229, 1985. [PubMed: 4014309]46,XX,t(2;17)(p25.1;q23.1).&"46,XX,-17,+der(17),t(2;17)(p25.1;q23.1)mat."&"46,XX,-2,+der(2),t(2;17)(p25.1;q23.1)mat."Patient with multiple congenital anomalies, including microcephaly, hypertelorism, epicanthic folds, broad nasal bridge, anteverted nostrils, posteriorly angulated ears, micrognathia, widely spaced nipples, arachnodactyly with proximal thumbs, and a coxa vara deformity, died after 12 days.Aberration: Simple translocationIndex Terms: Ears ... posteriorly angulated,Epicanthal folds,Hip(s) ... dislocation (coxa vara),Hypertelorism,Microcephaly,MicrognathiaNegative band
- Glass I A, Trenholme A, Mildenhall L, Bailey R J, Cotter P D.: Mild phenotype in two siblings with distal monosomy 12p13.31->pter. Clin. Genet. 57:401-405, 2000. [PubMed: 10852377]Patients 1 and 2:46,XX and XY,der(12)t(2;12)(p25.1;p13.31)mat.Data are reviewed on 2p trisomy and 12p monosomy cases. It is suggested that 12p monosomy features include microcephaly, facial dysmorphia, developmental and growth delay, and dental and digital anomalies.Aberration: Reciprocal translocationChromosomal Aneuploidy: 2p+;12p-
- Murray R S, keeling J W, Ellis P M, FitzPatrick D R.: Symmetrical upper limb peromelia and lower limb phocomelia associated with a de novo apparently balanced reciprocal translocation: 46,XX,t(2;12)(p25.1;q24.1). Clin. Dysmorph. 11:87-90, 2002. [PubMed: 12002154]46,XX,t(2;12)(p25.1;q24.1)de novo.Ultrasound examination at 15 weeks revealed the limb anomalies, which led to karyotyping and subsequent termination of the pregnancy at 20 weeks.Aberration: Reciprocal translocationIndex Terms: Lower limb phocomelia,Symmetrical upper limb peromelia
- Stalker D J, Vigneswaren S, Sharples P M, Lunt P W.: Distal trisomy 2p and arachnodactyly. J. Med. Genet. 37:974-976, 2000. [PMC free article: PMC1734504] [PubMed: 11186945]Two sibs displaying concordant dysmorphic features46,XY or XX,-10,+der(10)(2;10)(p25.1;q26.3)mat.,The balanced translocation was also present in the maternal grandmother.Both the mother and grandmother are phenotypically normal.Aberration: Simple translocationChromosomal Aneuploidy: 2p+Index Terms: ArachnodactylyNo band
- Wakita Y, Narahara K, Takahashi Y, Kikkawa K, Kimura S, Oda M, Kimoto H: Duplication of 2p25: confirmation of the assignment of soluble acid phosphatase (ACP1) locus to 2p25. Hum. Genet. 71:259-260, 1985. [PubMed: 4065897]Patient was one year old; had multiple congenital anomalies including trigonocephaly, arachnodactyly and right exophthalmos.46,XX,dir dup(2)(pter -> p25.1::p25.3 -> p25.1::p25.1 -> qter) or (pter -> p25.3::p25.3 -> p25.1::p25.3 -> qter) de novo.Aberration: Direct duplicationIndex Terms: TrigonocephalyNegative band
- Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]46,XY,t(2;17)(p25.1;p11.1).Aberration: Reciprocal translocationNegative band
- 02p251 - Chromosomal Variation in Man02p251 - Chromosomal Variation in Man
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